Pick disease
Loss of amyloid precursor protein exacerbates early inflammation in Niemann-Pick disease type C
... Here, we asked whether the amyloid precursor protein (APP) plays a role in the early interferon-driven aberrant signaling observed in the pre-symptomatic NPC brain. APP is a disease modifier of Niemann-Pick ...
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Successful Hematopoietic Stem Cell Transplantation for Niemann-Pick Disease Type B
... 2. Elleder M, Cihula J. Niemann-Pick disease (variation in the sphingo- myelinase deficient group). Neurovisceral phenotype (A) with an ab- normally protracted clinical course and variable expression of ...
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The Palliative Use of Intrathecal Baclofen in Niemann-Pick Disease Type C
... Niemann-Pick disease type C is a rare progressive genetic disorder that leads to the abnormal accumulation of lipids within various tissues of the body, including brain tissue and ...the disease, ...
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CLASSIFICATION, CHARACTERIZATION, TREATMENT, CARRIER DETECTION AND GENETIC BASIS OF NEIMAN-PICK DISEASE
... NPC1 disease but the affinity of it derivative that ...NPC disease but several difficulties are there such as gene delivering ...this disease is the accumulation in the viscera of Nieman pick ...
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Miglustat in Niemann-Pick disease type C patients: a review
... Niemann-Pick disease Type C (NP-C) is a rare neuro- visceral lysosomal disorder caused by autosomal reces- sive mutations in either the NPC1 gene (in 95% of cases) or the NPC2 gene (in approximately 4% of ...
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Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease
... Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) ...B disease patients had at least one ...
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Functional analysis of Niemann Pick disease type C family protein, NPC1a, in Drosophila melanogaster
... During embryonic gonad coalescence, primordial germ cells (PGCs) follow a carefully choreographed migratory route circumscribed by guidance signals towards somatic gonadal precursor cells (SGPs). In Drosophila ...
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Case Report Niemann-Pick disease: report of two cases and review of literature
... A 23-year-old female, was diagnosed of Niemann-Pick Disease (C1) at birth. Half year ago, lower extremities pitting edema first appeared after exertion and gradually abdomi- nal distension and jaundice ...
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Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report
... The use of advanced technology, for example, next gen- eration sequencing (NGS), plays a crucial role in sensitive and accurate diagnostic procedures including heterozy- gote identification, whereas searches for a ...
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Niemann-Pick disease type C
... the disease course stabilized in 72% of patients treated for one year or more, based on a composite assessment of horizontal saccadic eye movement velocity, ambulation, swallowing and ...modified ...
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Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
... neurological disease progression in paediatric patients with NP-C, particularly those with the late- infantile and juvenile-onset ...neurological disease after 2 years of ...neurological disease over ...
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A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B
... A disease, which has an Ashkenazi Jewish predilection, is a severe neurodegenerative dis- ease of infancy characterized by progressive psychomo- tor retardation, failure to thrive, hepatosplenomegaly, cherry-red ...
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Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review
... annual disease progression compared with those untreated/ treated < 1 year ...annual disease progression in infantile patients, and a trend towards reduced disease progression in juvenile patients ...
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Subcortical Volumetric Reductions in Adult Niemann Pick Disease Type C: A Cross Sectional Study
... We have demonstrated that patients with adult NPC show key volume reduction in a number of subcortical regions compared with healthy individuals, occurring in sites where neuropatho- logic abnormalities have been shown ...
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Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis
... The efficacy data arising from our case series suggest clinical improvements in the systemic and neurologic manifestations of NPC disease following the IV admin- istration of HPβCD. It is emphasized that this is a ...
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Niemann-Pick disease type C symptomatology: an expert-based clinical description
... recessive disease caused by mutations in the genes NPC1 (~95% of cases), NPC2 (~4% of cases) and possibly other as yet unidentified genes (~1% of cases) ...the disease is sometimes referred to as NP-C1 or ...
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Consensus clinical management guidelines for Niemann-Pick disease type C
... Retrospective national expert centre based studies from Australia, the Netherlands, the UK, Portugal, Czech Republic, France and United Arab Emirates have reported an annual incidence varying between 0.25 and 2.20 per ...
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Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
... NPC disease is driven by more dominant cell-autonomous mechanisms [2,9,17], and we suggested that immune factors might have minimal ...NPC disease, even with loss of com- plement, supports these ...NPC ...
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
... monitor disease progression independent from the age of ...of disease is determined once from questionnaire data obtained at one comprehensive data ...accelerates disease progression as reflected by ...
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Unique molecular signature in mucolipidosis type IV microglia
... Fabry disease mice to determine if impaired lysosomal function is sufficient to prime these brain-resident immune ...Niemann-Pick disease, type C1, another LSD with significant CNS ...Fabry ...
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